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mutLBSgeneDB |
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| Gene summary for CNNM2 |
 Gene summary |
| Basic gene Info. | Gene symbol | CNNM2 |
| Gene name | cyclin and CBS domain divalent metal cation transport mediator 2 | |
| Synonyms | ACDP2 | |
| Cytomap | UCSC genome browser: 10q24.32 | |
| Type of gene | protein-coding | |
| RefGenes | NM_017649.4, NM_199076.2,NM_199077.2, | |
| Description | ancient conserved domain-containing protein 2cyclin M2metal transporter CNNM2 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 607803 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000148842 | ||
| HPRD : 07418 | ||
| Vega : OTTHUMG00000018976 | ||
| Protein | UniProt: Q9H8M5 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CNNM2 | |
| BioGPS: 54805 | ||
| Pathway | NCI Pathway Interaction Database: CNNM2 | |
| KEGG: CNNM2 | ||
| REACTOME: CNNM2 | ||
| Pathway Commons: CNNM2 | ||
| Context | iHOP: CNNM2 | |
| ligand binding site mutation search in PubMed: CNNM2 | ||
| UCL Cancer Institute: CNNM2 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for CNNM2 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | D455 | R454W | COAD | 1 | I566 | G565E | COAD | 1 | T568 | T568I | SKCM | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for CNNM2 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | D455 | R454W | -1.4102223 | I566 | G565E | -0.56313686 | T568 | T568I | -0.48565653 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for CNNM2 from PDB |
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| Differential gene expression and gene-gene network for CNNM2 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for CNNM2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C3151295 | HYPOMAGNESEMIA 6, RENAL | 1 | GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| 39641 | T568I | Pathogenic | Germline | MedGen:C3151295 OMIM:613882 Orphanet:ORPHA34527 |
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| Pharmacological information for CNNM2 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of CNNM2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ADP | ADP | 4iy0 | A | D455 I566 T568 |
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| Conservation information for LBS of CNNM2 |
| Multiple alignments for Q9H8M5 in multiple species |
| LBS | AA sequence | # species | Species | C456 | TPLRDCFMITG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C456 | TPIESTFSLDV | 2 | Arabidopsis thaliana, Arabidopsis thaliana | D455 | MTPLRDCFMIT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D455 | MTPIESTFSLD | 2 | Arabidopsis thaliana, Arabidopsis thaliana | D571 | IVTLEDVIEEI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D571 | ---------ST | 2 | Arabidopsis thaliana, Arabidopsis thaliana | E570 | GIVTLEDVIEE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E570 | ----------S | 2 | Arabidopsis thaliana, Arabidopsis thaliana | F457 | PLRDCFMITGE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F457 | PIESTFSLDVN | 2 | Arabidopsis thaliana, Arabidopsis thaliana | I566 | YEVLGIVTLED | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I566 | ----------- | 2 | Arabidopsis thaliana, Arabidopsis thaliana | P482 | GYTRIPVFEGE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P482 | GHSRVPVYSGN | 1 | Arabidopsis thaliana | P482 | GHSRVPVYSDN | 1 | Arabidopsis thaliana | R480 | ESGYTRIPVFE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R480 | ARGHSRVPVYS | 2 | Arabidopsis thaliana, Arabidopsis thaliana | T451 | VEDVMTPLRDC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T451 | AQEAMTPIEST | 2 | Arabidopsis thaliana, Arabidopsis thaliana | T479 | MESGYTRIPVF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T479 | LARGHSRVPVY | 1 | Arabidopsis thaliana | T479 | QARGHSRVPVY | 1 | Arabidopsis thaliana | T568 | VLGIVTLEDVI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T568 | ----------- | 2 | Arabidopsis thaliana, Arabidopsis thaliana | Y478 | IMESGYTRIPV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y478 | ILARGHSRVPV | 1 | Arabidopsis thaliana | Y478 | IQARGHSRVPV | 1 | Arabidopsis thaliana |
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